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Centogene CentoXome Gold, CentoXome Platinum

Aug 18, 2015

Centogene has released two clinical exome sequencing patient-parent trio tests, CentoXome Gold and CentoXome Platinum. The tests include Sanger confirmation and a medical report, using the company's proprietary CentoMD variant database, and promise reportable variants in more than 60 percent of cases. CentoXome Gold, which covers 95 percent of targets with greater than 10-fold coverage, has a turnaround time of 45 to 60 days and a price of €1,980 ($2,180). CentoXome Platinum covers 95 percent of targets with greater than 20-fold coverage. The test, which is aimed at urgent cases, including prenatal testing, has a turnaround time of less than 15 days and a price of €3,975.

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Feb 15, 2018

Twist Bioscience Twist Human Core Exome Kit

Twist Bioscience has commercially launched its Twist Human Core Exome Kit, a comprehensive library preparation and target enrichment kit. It is based on the firm's DNA synthesis technology and includes all the tools needed for library construction, target capture, and enrichment to prepare a sample for sequencing, the firm said. Twist said that as part of the kit, it will offer an option to add IntegraGen’s cloud-based platforms, Mercury and Sirius, for analysis of germline or cancer samples. In addition to the exome kit, Twist also said it has launched a custom panels offering tailored to individual customer requests.

Feb 15, 2018

Omega Bio-Tek Mag-Bind Blood DNA HIV Kit

Omega Bio-Tek announced the launch of its Mag-Bind Blood DNA HV kit, which extracts genomic DNA from large volume blood samples in a fully automated solution. The firm's kit combines extraction chemistry on the Hamilton Microlab STAR liquid platform to provide expedited results for applications including biorepositories, genomics research, and pharmacogenetics that require massive amounts of DNA extraction. The firm believes that the kit will allow researchers to process up to twenty-four 10 milliliters blood samples in 2.5 hours without compromising DNA yield and quality. Omega Bio-tek business director Travis Butts noted that the workflow can perform from volumes as small as 250 microliters to 10 milliliters without additional expensive accessories on the Hamilton platform.

Feb 13, 2018

DNAnexus Clinical Trial Solution

DNAnexus has released Clinical Trial Solution, a cloud-based system that bundles secondary analysis, interpretation, and translational informatics for using next-generation sequencing data in clinical trials. DNAnexus said that its GxP-compliant CTS combines omic information with data from clinical trials to help reduce the time and expense of trial design and drug development.

Feb 13, 2018

SeraCare Seraseq Breast CNV; Lung and Brain CNV Mix

SeraCare Life Sciences launched the Seraseq Breast CNV and Seraseq Lung and Brain CNV Mix, reference materials for analyzing copy number variation. Both have been built with biosynthetic technology that can be easily scalable to incorporate new CNVs over time, and were developed so that clinical labs conducting NGS-based tumor profiling for cancer can better understand and characterize their assays, SeraCare said. They were precisely quantified using highly sensitive digital PCR assays to analyze amplification of EGFR, MET, FGFR3, MYC, ERBB2, and MYCN genes at +3, +6, and +12 copies against a single well-characterized genomic background, the company said.

Feb 12, 2018

Bionano Genomics Direct Label and Stain

Bionano Genomics announced today the global launch of its Direct Label and Stain (DLS), a new chemistry for sequencing motif labeling. The kit is a non-destructive labeing chemistry that will improve the firm's Saphyr genome mapping system. Bionano claims that the DLS will also improve sensitivity for all structural variant calls, yielding detection of heterozygous insertions and deletions as small as 500 bp. The DLS kits will allow high-volume users to map a human genome for $500.

Feb 09, 2018

Sema4 Natalis

Sema4 has launched Natalis, a supplemental newborn screening test designed to detect 193 childhood-onset diseases or disorders. In the US, newborns are typically screened for 34 health conditions on the recommended uniform screening panel, but the conditions vary by state and represent only a fraction of the genetic diseases that can manifest in a child's first decade, Sema4 noted. As a supplemental test, Natalis screens for more than five times the number of genetic diseases than a state's standard hospital test, the company said. Every Sema4 Natalis order also includes a pharmacogenetic analysis of how a baby is likely to respond to 38 medications commonly prescribed at an early age. The test uses DNA sequencing analysis, and sample collection can be performed at home with a cheek swab, the company said.

Feb 08, 2018

NuGen Technologies Celero DNA-Seq

NuGen Technologies has launched Celero DNA-Seq, a library prep system for Illumina sequencers. The system includes library quantitation called NuQuant, which directly measures the molar concentration in a library, eliminating the need for serially diluting libraries and estimating library size, according to the company. It also includes master mixes that include all necessary components, and is amenable to automation.

The Celero DNA-Seq system will be available with Unique Dual Indexes as well as Metaplex barcode options to increase multiplexing.

Feb 08, 2018

Cofactor Genomics Paragon

Cofactor Genomics has launched Paragon, a cancer type-agnostic solid tumor immune-profiling assay that uses a proprietary database of immune reference signatures to interrogate immune activity associated with disease or therapy response. For example, the assay can differentiate cells such as M1 and M2 macrophages and can report cancer-specific expression signals from genes including PD-1, PD-L1, and CTLA4. The assay requires only two FFPE tissue sections for analysis and can accommodate any solid tumor specimen, with expression databases pre-built for more than 25 different cancer types, Cofactor said.

Feb 07, 2018

Quantabio Q Thermal Cycler

Quantabio has launched Q, a portable thermal cycler that weighs 4.5 pounds and processes up to 48 samples per run. The instrument can detect two-fold expression level differences and yields results in as little as 25 minutes without any calibration. Up to 10 instruments can be connected with Bluetooth, enabling processing of up to 480 samples in a single data set.

Feb 07, 2018

Mission Bio Tapestri Custom Panels

Mission Bio has launched Tapestri Custom Panels to enable researchers to conduct single-cell DNA analysis for genetic mutation research. The panels have a throughput of 10,000 cells per run and are compatible with a wide range of samples including cell lines, PBMCs, bone marrow, and fresh frozen solid tissue nuclei, enabling researchers examining a range of complex diseases to fully resolve clonal heterogeneity and mutational co-occurrence. Mission Bio's Tapestri platform debuted in October 2017 and includes an instrument, consumables, and software for single-cell genomics analysis.

Feb 06, 2018

Personalis ImmunogenomicsID and NeoantigenID

Personalis has launched ImmunogenomicsID, which combines DNA and RNA sequencing data to generate an immunogenomic profile of a tumor and its microenvironment. The product is designed to help identify biomarkers and signatures that can impact patient response to cancer immunotherapies. It is a new component and extension of the company's existing ACE ImmunoID Platform, which combines genome-scale sequencing with data analytics for broad tumor immunogenomic characterization.

The company also announced the latest release of NeoantigenID, a component of the ACE ImmunoID platform. ACE ImmunoID, which uses Personalis' patented ACE technology, combines augmented exome and transcriptome sequencing with analytics to enable broad tumor immunogenomic characterization. This newest release of NeoantigenID not only identifies candidate neoantigens derived from single nucleotide variants, but now also includes putative neoantigens derived from insertion and deletion mutations and gene fusions, for both MHC Class I and Class II, the company said. The new analytics integrate DNA and RNA sequencing data to calculate neoantigen load, expression of genes, and expression of variants, while incorporating phasing information to improve the accuracy of neoantigen prediction.

Feb 05, 2018

Thermo Fisher Scientific Axiom Microbiome Array

Thermo Fisher Scientific has launched the Applied Biosystems Axiom Microbiome Array for the detection of archaea, bacteria, fungi, protozoa, and viruses in human and other samples. The array was developed in collaboration with the Lawrence Livermore National Laboratory and carries sequences from almost 13,000 species. Prior to commercialization, the array was used in a pilot study of the UK Biobank.

Feb 02, 2018

Lucence Diagnostics Plasma EGFR C797S Mutation Detection Assay

Lucence Diagnostics has launched its plasma EGFR C797S non-invasive mutation detection assay for clinical use in Southeast Asia. The assay is based on Lucence's proprietary Lumi-ARMS technology, and rapidly detects the presence of the EGFR C797S mutation which is linked with osimertinib resistance in EGFR-mutant non-small cell lung cancer. The assay can be used with blood and cerebrospinal fluid and features a sensitivity of up to 0.01 percent, the company said. The assay is also currently available as part of the Lucence LiquidTrack test offered through the company's reference laboratory in Singapore.

Feb 01, 2018

OpGen Acuitas Gene Panel u.547 Test

OpGen has announced today the commercial availability of its Acuitas AMR Gene Panel u5.47 test. The research-use-only test was developed to detect the most common bacterial causes of complicated urinary tract infections from urine and isolated colonies. The gene panel also detects 47 gene targets that indicate antibiotic resistance. Test results are typically available in less than three hours compared to traditional microbiology methods, which require two to three days to produce results.

Jan 29, 2018

Synthego Inference of CRISPR Edits Software

Synthego has launched a new tool named Inference of CRISPR Edits, or ICE. This CRISPR analysis software features rapid, reproducible batch processing of Sanger data. It's also free to use and open source, according to the company. Featuring an easy-to-use interface, ICE provides insertion and deletion percentage, indel contributions, and total discordance against wild-type sequence data for up to hundreds of samples at a time, the company said.

This webinar will walk through key considerations and helpful guidelines to accelerate next-generation sequencing (NGS)-based clinical genomics assay validation for less money and greater confidence in results.

In this webinar, Jill Viles, an Iowa mother with no clinical training, shares her story of how she self-diagnosed her rare condition, a muscle-wasting disease caused by a mutation in the LMNA gene. She will also discuss how she discovered that a mutation in the same gene is the underlying cause for the excess muscle phenotype exhibited by Canadian Olympic hurdler Priscilla Lopes-Schliep.